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Reference: Matthews, L, Enzinger, C, Fazekas, F et al., (2014). MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis. Journal of Neurology, Neurosurgery and Psychiatry, 86, 537-542.Citable link to this page:

 

MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis.

Abstract: BACKGROUND: Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis (MS)-like illness appear to coexist 50 times more frequently than would be expected by chance. This association of LHON and MS (LMS) raises an important question about whether there could be a common pathophysiological mechanism involving mitochondrial dysfunction. OBJECTIVE: The primary aim was to define MRI features of LMS and LHON, and to assess the proportions of individuals displaying features typical of MS. Secondarily, we investigated the effect of gender on the risk of developing white matter lesions in the context of LHON. METHODS: A blinded standardised review of conventional brain MRIs of 30 patients with MS, 31 patients with LHON and 11 patients with LMS was conducted by three independent experts in the field. MS-like MRI features were assessed. RESULTS: All patients with LMS and 26% of patients with LHON had white matter lesions. Of these, all patients with LMS and 25% with LHON were found to have an MRI appearance typical of MS. Female patients with LHON had a significantly greater risk of having white matter lesions consistent with MS compared with male patients (relative risk 8.3). CONCLUSIONS: A blinded review of conventional brain MRIs shows that patients with LMS have a scan appearance indistinguishable from MS. Mitochondrial dysfunction could be a common pathophysiological pathway in the formation of white matter lesions. There appears to be a strong female influence on the radiological appearance as well as clinical development of MS in patients with LHON.

Peer Review status:Peer reviewedPublication status:PublishedVersion:Publisher's versionNotes:Copyright © Matthews et al. This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

Bibliographic Details

Publisher: BMJ Publishing Group

Publisher Website: http://group.bmj.com/

Journal: Journal of Neurology, Neurosurgery and Psychiatrysee more from them

Publication Website: http://jnnp.bmj.com/

Issue Date: 2014-7

pages:537-542Identifiers

Urn: uuid:f4b5c4ea-2433-4f5d-9205-4a34ffb06d3d

Source identifier: 476987

Eissn: 1468-330X

Doi: https://doi.org/10.1136/jnnp-2014-308186

Issn: 0022-3050 Item Description

Type: Journal article;

Language: eng

Version: Publisher's versionKeywords: On behalf of the MAGNIMS network Tiny URL: pubs:476987

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Author: Matthews, L - - - Enzinger, C - - - Fazekas, F - - - Rovira, A - - - Ciccarelli, O - - - Dotti, MT - - - Filippi, M - - - Frederi

Source: https://ora.ox.ac.uk/objects/uuid:f4b5c4ea-2433-4f5d-9205-4a34ffb06d3d



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